ClinVar Miner

Variants in gene combination COL4A3, MFF-DT

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Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
126 214 284 234 74 779

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 79 73 81 204 33 444
Alport syndrome 7 5 151 18 52 225
Alport syndrome, autosomal recessive 26 112 37 2 1 168
Alport syndrome 3, autosomal dominant 30 38 37 12 1 113
not specified 1 0 13 32 36 74
Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 3 3 4 0 0 10
Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive 0 0 0 0 8 8
Benign familial hematuria 5 2 0 0 0 7
Alport syndrome 3, autosomal dominant; Benign familial hematuria 2 2 1 0 0 5
Hearing impairment 0 2 2 0 0 4
Hematuria 1 2 1 0 0 4
COL4A3-Related Disorders 0 2 1 0 0 3
Chronic kidney disease 0 0 2 1 0 3
Inborn genetic diseases 2 0 0 0 0 2
Nephrotic syndrome 1 0 1 0 0 2
Hematuria; Glomerulopathy 0 0 1 0 0 1
Hereditary Disorder 0 0 0 1 0 1
Hereditary hearing loss and deafness 1 0 0 0 0 1
Macroscopic hematuria 0 1 0 0 0 1
Proteinuria; Microscopic hematuria; Microalbuminuria 1 0 0 0 0 1
Steroid-resistant nephrotic syndrome 0 0 1 0 0 1
Stickler syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 66 29 52 199 25 371
Illumina Clinical Services Laboratory,Illumina 0 2 126 11 42 181
Counsyl 11 52 27 1 0 91
Natera, Inc. 4 2 36 19 23 84
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 19 24 22 1 0 64
Athena Diagnostics Inc 11 10 9 4 25 59
GeneDx 1 6 10 19 21 57
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 7 16 30 53
PreventionGenetics, PreventionGenetics 0 0 0 9 27 36
Gharavi Laboratory,Columbia University 3 28 4 0 0 35
Integrated Genetics/Laboratory Corporation of America 9 6 2 3 6 26
Myriad Women's Health, Inc. 0 26 0 0 0 26
Molecular Biology Laboratory, Fundació Puigvert 4 14 0 0 0 18
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 2 10 1 2 16
Institute of Human Genetics, Klinikum rechts der Isar 7 8 0 0 0 15
Medical Genetics, University of Parma 2 7 2 0 0 11
Sydney Genome Diagnostics,Children's Hospital Westmead 4 4 3 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 5 1 0 9
Precision Medicine Center,Zhengzhou University 1 7 1 0 0 9
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 2 3 0 0 8
Fulgent Genetics,Fulgent Genetics 3 1 4 0 0 8
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 4 3 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 3 4 0 0 7
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 2 3 0 0 6
OMIM 5 0 0 0 0 5
Mendelics 0 0 4 0 1 5
Baylor Genetics 1 0 3 0 0 4
Institute of Human Genetics,Cologne University 1 3 0 0 0 4
Genetic Diagnostic Laboratory,University of Szeged 4 0 0 0 0 4
Centogene AG - the Rare Disease Company 2 1 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 1 0 0 3
Fundacion Rioja Salud,Center for Biomedical Research (CIBIR) 3 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 0 0 3
SIB Swiss Institute of Bioinformatics 0 0 2 0 1 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 2 1 0 3
Ambry Genetics 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
IUMS Hospital Medical Genetics Lab,Iran University of Medical Sciences 1 0 0 0 0 1
Hereditary Hearing Loss Research Unit,University of Madras 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Santos-Cortez Lab,University of Colorado School of Medicine 0 1 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 1 0 0 0 1
Pars Genome Lab 0 0 0 1 0 1
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 1 0 0 0 0 1

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